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rs121909739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909739(A;A)
Make rs121909739(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929242
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs121909739
ebirs121909739
HLIrs121909739
Exacrs121909739
Varsomers121909739
Maprs121909739
PheGenIrs121909739
hapmaprs121909739
1000 genomesrs121909739
hgdprs121909739
ensemblrs121909739
gopubmedrs121909739
geneviewrs121909739
scholarrs121909739
googlers121909739
pharmgkbrs121909739
gwascentralrs121909739
openSNPrs121909739
23andMers121909739
23andMe allrs121909739
SNP Nexus

SNPshotrs121909739
SNPdbers121909739
MSV3drs121909739
GWAS Ctlgrs121909739
Max Magnitude0
OMIM138140
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909739(A;A)
Alt rs121909739(A;A)
Reference rs121909739(G;G)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2 not provided Glucose transporter type 1 deficiency syndrome Epilepsy
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2 not provided Glucose transporter type 1 deficiency syndrome Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed 1
HGVS NC_000001.10:g.43394913C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000017493.27, RCV000153967.2, RCV000179919.1, RCV000179920.1,